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Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

Abstract

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Synonyms of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

Disorder Subdivisions

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, Type I

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, Type II

BPES Type I

BPES Type II

General Discussion

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare disorder that is inherited as an autosomal dominant trait. The main findings of this disorder are eyelids that are abnormally narrow horizontally (blepharophimosis), a vertical fold of skin from the lower eyelid up either side of the nose (epicanthus inversus), and drooping of the upper eyelids (ptosis). There are thought to be two types of the syndrome. Type I BPES may involve female infertility and is inherited as an autosomal dominant genetic trait. Both male and female children of a male with type I BPES have a 50% chance of being affected. If females with type I BPES are able to have children, the odds are 50% that each child (male or female) will have type I BPES. Type II BPES is also transmitted as an autosomal dominant genetic trait. Either parent may transmit the disorder and the children have a 50% chance of being affected. Type II is not associated with female infertility.

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Resources

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